Canonical Allele Identifier: CA2629114846
Gene: SMAD3 HGNC NCBI

Linked Data

gnomAD v4: 15-67066052-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.67066052G>C , CM000677.2:g.67066052G>C GRCh38
NC_000015.9:g.67358390G>C , CM000677.1:g.67358390G>C GRCh37
NC_000015.8:g.65145444G>C NCBI36
NG_011990.1:g.5196G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000559460.6:c.-110+2108G>C ENSP00000453082.2:n.-110+2108G>C
ENST00000560424.2:c.-103G>C ENSP00000455540.2:n.-103G>C
ENST00000327367.9:c.-103G>C MANE Select ENSP00000332973.4:n.-103G>C
ENST00000327367.8:c.-103G>C ENSP00000332973.4:n.-103G>C
ENST00000559460.5:c.-110+2108G>C ENSP00000453082.1:n.-110+2108G>C
NM_005902.3:c.-103G>C NP_005893.1:n.-103G>C
XM_011521559.1:c.-103G>C XP_011519861.1:n.-103G>C
NM_005902.4:c.-103G>C MANE Select NP_005893.1:n.-103G>C
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